X-Chromosome Matching at Family Tree DNA

Just as they promised, and right on schedule, Family Tree DNA today announced X chromosome matching.  They have fully integrated X matching into their autosomal Family Finder product matching.  This will be rolling live today.  Happy New Year from Family Tree DNA!!!

In the article, X Marks the Spot, I showed the unique inheritance properties of the X chromosome.  In a nutshell, men only inherit one copy from their mother, because they inherit a Y from their father, but women get a copy from both parents.  Still, you don’t inherit parts of your X from all of your ancestors, so knowing your own X inheritance pattern can help immensely to rule out common genealogy lines when you match someone on the X.

In their informational rollout, Family Tree DNA provided the following information about their new features.

Here is the menu link to the Family Finder Matches menu.

x match 1

On the Family Finder Matches page, there is a filter to show only X-Matches.

x match 2

When you use the X-Match filter on a male Family Finder kit, you should get only matches from the maternal X-Chromosome.

x match 3

Next, like other Family Finder Matches you can expand the advanced bar for a match and click to add the match to the Compare in Chromosome Browser list.

x match 4

Matches are added to the Compare in Chromosome Browser list. You could go right to the Chromosome Browser by clicking on the compare arrow at this point.

x match 5

Next we can also go right to the Chromosome Browser.

x match 6

The Chromosome Browser also lets you filter the match list by X-Matches.

x match 7

Here are three immediate relatives. The first two share X-Chromosome DNA. The third (green) one does not.

x match 8

When we scroll down to the X at the bottom, we see that X-Matching is displayed for the first two but not the third.

x match 9

Moving to the Advance Matching page, X-Chromosome matches have also been integrated.

x match 10

X-Match is an option that can be checked alongside other types of testing.

x match 11

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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2013 Family Tree DNA Conference Day 2

ISOGG Meeting

The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning.  I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.

Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well.  It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.

Bennett opened the second day after the ISOGG meeting.

“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.

Bennett told the story of the beginning of Family Tree DNA.  “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.”  Smart woman, and thankfully for us, he went.  But he had a roadblock.  He felt there was a possibility that he could use the Y chromosome to solve the roadblock.  Bennett called the author of one of the two papers published at that time, Michael Hammer.  He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport.  He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done.  Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.”  Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.”  Let’s just say Bennett was no longer unemployed and the rest, as they say, is history.  With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.

Bennett day 2 intro

Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe

Michael has been at all of the conferences.  He says he doesn’t think we’re crazy.  I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy.  But it obviously has rubbed off on him, because today, he had a real shocker for us.

I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something.  He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.

Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.

Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.

Hammer scroll

Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.

The first anatomically modern humans migrated from Africa about 45,000 years ago.

After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.

Neolithic farmers arrived from the near east beginning 10,000 years ago.

Farmers had an advantage over hunter gatherers in terms of population density.  People moved into Northwestern Europe about 5,000 years ago.

What did the various expansions contribute to the population today?

Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.

The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.

It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.

In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion.  They did find that most basic structure of R tree did come from the near east.  They looked at P311 as marker for expansion into Europe, wherever it was.  Here is a summary page of Neolithic Europe that includes these studies.

Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time.  However, it appears that he and most everyone else, was wrong.

The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture.  If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.

Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature.  There were 4 primary locations with skeletal remains.  There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.

hammer ancient y

All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.

In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.

In Spain, 5 G2a and 1 E1b.

In Germany, 1I G2a and 2 F*.

Otzi is haplogroup G2a2b.

There was absolutely 0, no, haplogroup R of any flavor.

In modern samples, of 172 samples, 94 are R1b.

To evaluate this, he is dropping back to the backbone of haplogroup R.

hammer backbone

This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago.  This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.

This same pattern does not extrapolate to mitochondrial DNA where there is continuity.

What conferred advantage to these post Neolithic men?  What was that advantage?

Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.

  • U106 is clustered in Germany
  • L21 clustered in the British Isles
  • U152 has an Alps epicenter

hammer post neolithic epicenters

This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.

Archaeological studies produce patterns similar to the hap epicenters.

What kind of model is going on for this expansion?

Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.

This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.

To make things even more interesting, the base tree that includes R has also been shifted, dramatically.

Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.

It has been broken into 4 major branches from several individual lineages – widely shifted clades.

hammer hap k

Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.

Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.

hammer r and q in europe

R then, populated Europe in the last 4000 years.

How did these Asians get to Europe and why?

Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe.  If you are shaking your head right about now and saying “huh?”…so were we.

Hammer hap r dist

Here is Dr. Hammer’s revised map of haplogroup dispersion.

hammer haplogroup dispersion map

Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.

For example, the R1bs of the British Isles.

There are many clades under L 21.  For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.

New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.

For example, there are 32 new SNPs under M222 which will help at a genealogical level.

These SNPs must have arisen in the past couple thousand years.

Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs.  The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.

G2a is currently 4-5% of the population in Europe today and R is more than 40%.

Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe

Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA

Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps.  She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.

marja

Finland has the population of Minnesota and is the size of New Mexico.

There are 3750 Finland project members and of them 614 are haplogroup N1c1.

Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.

Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.

Some of the interest in Finland’s DNA comes from migration which occurred to the United States.

Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate.  The administrator’s role has also changed on social media as opposed to just a FTDNA project admin.  Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”

Marja has done an excellent job of motivating her project members.  They are very active within the project but also on Facebook, comparing notes, posting historical information and more.

Session 3 – Jason Wang – Engineering Roadmap and IT Update

Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.

Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.”  He notes that they have added people since last year in addition to the Arpeggi acquisition.

Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.

Elliott began manually scoring mitochondrial DNA tests at age 15.  He joined FTDNA in 2006 officially.

Year in review and What’s Coming

4 times the data processed in the past year.

Uploads run 10 times faster.  With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.

FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern.   They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.

Focus on users uploading the family tree.  Tools don’t matter if the data isn’t there.  In order to utilize the genealogy aspect, the genealogy info needs to be there.   Will be enhancing the GEDCOM viewer.  New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.

They are now adding a SNP request form so that you can request a SNP not currently available.  This is not to be confused with ordering an existing SNP.

They currently utilize build 14 for mitochondrial DNA.  They are skipping build 15 entirely and moving forward with 16.

They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.

New Y tree will be released shortly as a result of the Geno 2.0 testing.  Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness.  This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.

New 2014 tree has 6200 SNPS and 1000 branches.

  • Commitment to take genetic genealogy to the next level
  • Y draft tree
  • Constant updates to official tree
  • Commitment to accurate science

If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.

If 3 or 4 people have the same SNP that are not related it will go directly to the tree.  This is the reason for the new SNP request form.

Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.

When they find a new SNP, where does it go on the tree?  When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement.  For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.

X Matching

Matching differential is huge in early testing.  One child may inherit as little as 20% of the X and another 90%.  Some first cousins carry none.

X matching will be an advanced feature and will have their own chromosome browser.

End of the year – January 1.  Happy New Year!!!

Population Finder

It’s definitely in need of an upgrade and have assigned one person full time to this product.

There are a few contention points that can be explained through standard history.

It’s going to get a new look as well and will be easily upgradeable in the future.

They cannot utilize the National Geographic data because it’s private to Nat Geo.

Bennett – “Committed to an engineering team of any size it takes to get it done.  New things will be rolling out in first and second quarter of next year.”  Then Bennett kind of sighed and said “I can’t believe I just said that.”

Session 4 – Dr. Connie Bormans – Laboratory Update

The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.

  • CLIA
  • CAP
  • AABB
  • NYSDOH

Between these various accreditations, they are inspected and accredited once yearly.

Working to decrease turn-around time.

SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.

Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.

New customer support software and new procedures to triage customer requests.

Implement new scoring software that can score twice as many tests in half the time.  This decreases turn-around time to the customer as well.

New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.

Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.

Session 5 – Maurice Gleeson – Back to Our Past, Ireland

Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013.  Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now.  Hopefully this will help people with Irish ancestry.

12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!

They developed a website titled Genetic Genealogy Ireland 2013.  Their target audience was twofold, genetic genealogy in general and also the Irish people.  They posted things periodically to keep people interested.  They also created a Facebook page.  They announced free (sponsored) DNA tests and the traffic increased a great deal.  Today ISOGG has a free DNA wiki page too.  They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.

2000-5000 people passed by the booth

500 people in the booth

Sold 99 kits – 119 tests

45 took Y 37 marker tests

56 FF, 20 male, 36 female

18 mito tests

They passed out a lot of educational material the first two days.  It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.

They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views.  Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.

This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.

Session 6 – Brad Larkin – Introducing Surname DNA Journal

Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test.  That’s his minute or two of fame!  I knew he looked familiar.

Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published.  It’s free, open access, web based and the author retains the copyright..  www.surnamedna.com

Conceived in 2012, the first article was published in January 2013.  Three papers published to date.

Encourage administrators to write and publish their research.  This helps the publication withstand the test of time.

Most other journals are not free, except for JOGG which is now inactive.  Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.

Peer review is important.  It is a critical review, a keen eye and an encouraging tone.  This insures that the information is evidence based, correct and replicable.

Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist

This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person.  We discussed how to effectively use mtdna results and what they really mean.  And you just never know what you’re going to discover.  Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line.  WooHoo!!

Q&A

FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.

After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.

Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments.  As they work with the Big Y chip, if the STRs are there, then they will be reported.

80% of FTDNA orders are from the US.

Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.

Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.

That’s it folks.  We took a few more photos with our friends and left looking forward to next year’s conference.  Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike.  Front row, left to right, me and Bennett Greenspan.

Goodbyes

See y’all next year!!!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

2013 Family Tree DNA Conference Day 1

This article is probably less polished than my normal articles.  I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write.  So you’re getting a spruced up version of my notes.  There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do.  Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry.  Max thought about this and said, really, not.  Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years.  The list included about 20 or so early adopters.  They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

Plaque Max and Me 2013

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators.  A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved.  When Max noted the admins who were leaders and are no longer with us, he could barely speak.  There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett remarks

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming.  Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time.  Her list of degrees would take a page or so.  She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card.  Then two months ago, Amy wound up sitting next to Max on another airplane.  It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers.  You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy?  How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here.  There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013.  I blogged about this at the time.

She spoke a bit about the history of this issue.

Mcguire

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA?  This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together.  Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor.  Is this a good thing or a bad thing?  Some feel that it’s unethical and an invasion of the privacy of the father.  But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved.  DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely.  Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907.  These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation.  “Three generations of imbeciles is enough.”  I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names.  The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived.  Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options.  53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release.  She notes that these were highly motivated people enrolled in a clinical study.  Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant.  Most people said they would participate if they were simply asked.  So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this.  I know several people who refused to participate in a research study because their results would not be returned to them personally.  All they wanted was information and to be treated respectfully.

What  the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well.  What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status.  It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA.  He has two children.  How does this affect his children?  Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information.  Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”.  Henrietta Lacks was a poor African-American woman with ovarian cancer.  At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research.  She was never informed or released anything, but then they were following the protocols of the time.  From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished.  The genome was eventually fully sequenced and published.  Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family?  And how does or should this affect policy?

How does this affect genetic genealogy?  Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics?  Should you have to talk to family members before anyone DNA tests?  Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy?  How about when the original tester dies?  Who has what rights and interests?  What about the unborn?  What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components.  Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over.  However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test.  Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved.  However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

Villars

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well.  This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents.  Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project.  More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years.  More than 360 ancient samples were collected across several different time periods.  There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially.  That’s for sure.  “We are reshaping the tree in an enormous way.”  What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year.  The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree.  Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.”  This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging.  I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA.  Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population.  This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America.  Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years.  Papers are coming within the next year about this.

They anticipate that interest will double within the next year.  They expect that based on recent discoveries, the 2015 Y tree will be much larger yet.  Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.”  The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science.  Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement.  He contacted his birth mother as an adult.  She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not.  Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’  With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4th grandparent by process of elimination.  While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA.    Here, Matt is discussing his children’s inheritance.

Matt dexter

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why.  Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous.  The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds.  Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue.  Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives.  This means that FTDNA’s Jewish “correction” seems to be working quite well.  Of course, they do have a great family group with which to calibrate their product.  Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish.  The non-Jewish group had almost exactly the opposite results.

  • Jewish people have from 1500-2100 matches.
  • Interfaith 700-1100 (Jewish and non)
  • NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project.  Jewish people match both Jewish and Interfaith families.  NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting.  This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried.  One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions.  Furthermore, the Jewish community has been endogamous longer than some of the other groups.  Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable.  I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central.  In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

 Estes Indian Princess photo

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held.  There were several topics.  Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended.  We had a wide range of expertise in the group and answered many questions.  One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well.  In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups.  This means they are listed on the “tree.”  So sometimes public and private can simply be a matter of timing and discovery.

FTDNA roundtable 2013

Here’s Bennett leading another roundtable discussion.

roundtable bennett

Session 7 – Dr. David Mittleman

Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur.  He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition.  He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology.  Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y.  It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well.  Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers.  This is not a test that a new customer would ever order.  The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

tech row

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit.  We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time.  We all bring food or drink and sometimes pitch in to rent the room.  We also spill out into the hallways where our impromptu “meetings” generally happen.  And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see.  Do we know how to party or what???

Here’s Linda Magellan working hard during the reception.  I think she’s ordering the Big Y actually.  We had several orders placed by admins during the conference.

magellan.jpg

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Human Genetics Revolution Tells Us That Men and Women Are Not the Same

Stop laughing.  I know, my initial reaction too was, “really – it took genetics to tell us that?”  But this is serious….really.

Males are 99.9% the same when compared to other males, and females are as well when compared to other females, but males and females are only 98.5% equal to each other – outside of the X and Y chromosomes.  The genetic difference between men and women is 15 times greater than between two men or two women.  In fact, it’s equal to that of men and male chimpanzees.  So men really are from….never mind.  It’s OK to laugh now…

men-women 1

We’ve been taught that other than X and Y, males and females are genetically exactly the same.  They aren’t.

men-women 2

Does this matter?  Dr. David Page, Director of the Whitehead Institute and MacArthur Genius Grant winner, says it absolutely does.  He has discovered that both the X and Y chromosomes function throughout the entire body, not just within the reproductive tract.

In his words, “Humane Genome, we have a problem.”  Medicine and research fails to take into account this most fundamental difference.  We aren’t unisex, and our bodies know this – every cell knows it at the molecular level, according to Dr. Page.

For example, some non-reproductive tract diseases appear in vastly different percentages in men and women.  Autism is found in 5 times as many males as females, Lupus in 6 times as many women as men and Rheumatoid Arthritis in 5 times as many women as men.  In other diseases, men and women either react differently to disease treatment, react differently to the disease itself, or both.  Dr. Page explains more and suggests a way forward in this short but very informative video.

About Dr. David Page:

David Page, Director of the Whitehead Institute and professor of biology at MIT, has shaped modern genomics and mapped the Y chromosome.  His renowned studies of the sex chromosomes have shaped modern understandings of reproductive health, fertility and sex disorders.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Combining Tools – Autosomal Plus Y-DNA, mtDNA and the X Chromosome

Sometimes, there’s nothing worse than a little bit of knowledge to get us into trouble.  If you need proof of that, I can show you a picture of one of my first quilts which has thankfully disappeared someplace and was known semi-affectionately as “The Ugly Quilt.”  I even entered it in an “Ugly Quilt” contest and it wasn’t even good enough, or is that bad enough, to win that!!  Fortunately, things have improved!  I’ve learned a lot.

Combine a little knowledge with people who desperately want answers, and you have a situation ripe for mistakes, misinterpretation and misunderstanding.

That’s what sometimes happens when you combine the results of two different genetic genealogy tools and you don’t really understand their differences, their application to the specific problem at hand, or what the results are really telling you.

I’m talking about combining autosomal testing with haplogroup based testing, both Y DNA and mitochondrial DNA.  This comes in two flavors; generic and specific.

Generic Matching – 23andMe

At 23andMe, your match results are displayed in a list along with information which may or may not be relevant to you and your match.  Shown below are my 8 top matches at 23andMe.  I know who these people are – they are my relatives, so there is no question of interpretation here.  Let’s take a look at the information provided.

combining 23andme

I have omitted the name column which is first.  The second column is their relationship to me.  The top row is me.  Everyone has the option to enter geographic (blue tab) and surname information (green tabs,) which I have done.  Not everyone does that as you can see by the information shown for the others.

Note the different haplogroups here.   For mitochondrial (pink tab), you have 7 different haplogroups out of 8.  That’s because these people, other than my son and I, don’t share a common maternal line.  If they did share a haplogroup, it would be coincidence, or very far back in time, because we know the pedigree charts of all of these people and they do not share a known maternal ancestor.

Looking at the Y DNA haplogroups, you’ll notice that there are 4 men and of those 4, three share the same haplogroup.  That is because, in this case, they are cousins who also share the same surname.  If I was an adoptee and made this discovery, I’d be in 7th Heaven, because this would be a very large hint.  However, if these men shared a haplogroup but didn’t share a common surname, again, it could be coincidence or a common ancestor very far back in time.

I put those words in bold because recently I’ve seen the tendency to jump to conclusions about the relevance of common haplogroup information related to autosomal testing.

Let’s use an example. At 23andMe, you are provided with what is considered an extended haplogroup.  Most of the time, these are correct except when the haplogroup designation involves insertions and deletions or reversions which can’t be detected reliably by this type of testing, only by full sequence or SNP testing.  Let’s not go there and let’s presume these are absolutely accurate for purposes of this illustration.  I happen to know my haplogroup listed at 23andMe is out of date.  It is listed as J1c2 and it is actually J1c2f, but that actually enhances the point I’m about to make.

Using the Behar paper supplement to “A Copernican Reassessment of the Human Mitochondrial Tree From its Root,”  the common ancestor for haplogroup J1c2 lived approximately 9700 years ago (plus or minus 2010 years standard deviation).  Therefore, my common ancestor with anyone sharing this haplogroup is anyplace from the current generation (my children or parents) to nearly 10,000 years ago – clearly not relevant for genealogy.  However, looking at my extended haplogroup, not determined by 23andMe, but found in my Family Tree DNA full sequence information, the common ancestor of J1c2f lived about 1900 years ago (plus or minus 3100 years standard deviation).  Clearly that makes about an 8000 year difference, which narrows the window, but it still isn’t necessarily genealogically relevant.

Furthermore, at 23andMe, haplogroup information is provided, but personal mutations are not, for either Y DNA or mitochondrial.  This is why I referred to this type of match at “generic.”  For specific Y DNA or mitochondrial matching, you’ll need to go to Family Tree DNA.

Specific Matching – Family Tree DNA

At Family Tree DNAY DNA, mitochondrial DNA and autosomal results require different tests.  The results are shown on different tabs on your personal page.

combining ftdna

Each tab provides you with a significant number of pages of information about each test and displays your results in different ways.

For both Y DNA and mitochondrial (mtDNA), one of the options is “Matches” which shows you your personal matches at several levels.  For mtDNA, the levels are HVR1, HVR1+HVR2 and Coding Region, which equate to the three levels of tests that you can take – basically introductory, intermediate and advanced.  For Y DNA, the levels are 12, 25, 37, 67 and 111 markers.

My match results are shown below, again, with the first column, names, removed.

combining mt matches

SmartMatching is important here, because Family Tree DNA has already done you the favor of removing anyone who is not a “true match.”  Notice that the first column shown here includes the envelope icon, a notes icon, a pedigree chart icon, and following that, the level of testing taken by this person.  I’m showing my full sequence matches here, so everyone has taken the FMS or full mitochondrial sequence test.

These are the people who also share the extended haplogroup of J1c2f.  This means our common ancestor lived sometime between now and about 2000 years ago (plus or minus the standard deviation.)  When you look at the oldest ancestors and the matches map that goes along with this test at Family Tree DNA, you can see how widely spread these “most distant” ancestors are.  You can also see that one person has listed their grandfather, which means they were confused.  A most distant mitochondrial, maternal, ancestor cannot be a grandfather – so this also calls into question the accuracy of their geographic information as well, shown in the Czech Republic, below.

Combining map

Two thousand years ago (give or take) the common ancestor of all of these people was one person, and their direct descendants, their children, all lived in the same place initially.  You can travel a long way in 2000 years.  My oldest ancestor, the white balloon is found in German and my closest match is found in Norway.

To understand how to use combined tools, you have to understand each individual tool first.

Family Tree DNA does provide a combined matching tool called “Advanced Matching” for Y DNA, mtDNA and autosomal (Family Finder) tests.

Advanced Matching

Advanced matching allows you to combine test types and filter on specific fields.

combining advanced options

The most common advanced matching for autosomal DNA is the combination of the Family Finder test plus either mtDNA or Y DNA results.

As they say, “your mileage may vary” and much of this variance will depend on two things.  First, how many people tested at which testing level of the mtDNA and Y DNA tests and second, the relative rareness of your haplogroup.  Said another way, if your mtDNA haplogroup is H and/or if your Y DNA haplogroup is R, you’re very likely to have a lot, many, low level matches because those haplogroups make up about half of the European population, respectively.  However, if your haplogroup is J1c2f, meaning that your base haplogroup is much less common than H and that you’ve taken the full sequence test, you’re going to get a lot fewer and a lot more meaningful matches.

At the haplogroup H level, which is the most common HVR1 results, your common ancestor lived between 12,000 and 30,000 years ago, depending on whose estimates you use.  Compare that to J1c2f’s 1900 years.  Big difference.  But is it big enough?  It’s a clue, just like any other clue.

What Matches Don’t Mean

Let’s say that on the advanced menu you selected two tests, the Family Finder and the FMS (full mitochondrial sequence) test.  The result is no matches.  IF you had a match at this level, it does NOT mean that your common autosomal match is on the maternal, mitochondrial line.  This is a very common mistake in logic.  It means that you should continue to include this line in your search and maybe you want to focus there.

Let’s look at why.  Autosomal testing reaches back in time to recent ancestors and measures how much of their DNA you share.  In the past 5 or 6 generations, you likely share some DNA from all of your ancestors.  After that, some of your ancestors DNA gets so diluted that it becomes in effect, washed out, or is present in such small quantities that we can’t effectively attribute it’s source.  Mitochondrial DNA however, is never admixed or divided.  Therefore time in terms of recent generations, unless we’re talking about when mutations occurred, like the mutation that set apart haplogroup J1c2f some 2000 years ago, is irrelevant.  Mitochondrial and Y DNA both measure back in time to your earliest ancestor in that line.

The best use of both mtDNA and Y DNA with autosomal is to eliminate possible lines.

What Matches Do Mean

Let’s say I select Family Finder and the HVR1 level and show only people I match in both tests.

At this point, especially if you are haplogroup H, you’re going to get a long list of matches and people get very excited at this point. Don’t.

combining mt no match

Above is an example list.  Here’s also the problem.

Problem 1 – Most people only tested at the HVR1 level.  For haplogroup J, this means the common ancestor lived about 35,000 years ago, plus or minus 5,000.  What this really means is that if these people were to take the full sequence test, chances are they would no longer match you.  There are more than 100 subgroups of haplogroup J and chances are very good that the tester would fall into one of them.

Problem 2 – Some people have tested at the HVR2 level or the FMS level and don’t match you at that level, even though they matched you at the HVR1 level.  Look at the first result, the second column, the X.  This means they did test and they don’t match you.  This means that you’ve just eliminated this direct maternal line as a possible autosomal match, barring a mutation in the past few generations which is not impossible but extremely unlikely.

However, when people are desperate for any shred of evidence, they interpret this as “I match on the HVR1 level so this must be my common line with this person.”  That is flawed logic and is outright wrong in the situation where the person has tested at a higher level and does NOT match.  In fact, it’s just the opposite, you’ve just disproven this line.  Now I think this is a good thing, because that means you can focus elsewhere.

This same logic holds for Y DNA matching as well.  Finding someone you match with at the 12 marker level in haplogroup R, especially R1b1a2 (M269) is quite common.  Finding someone you match at 67 or 111 markers and autosomally might be quite another matter.

A Third, Neglected Tool

There is a third tool that can be added to the mix here, but it’s not nearly as convenient as Advanced Matching.

Both 23andMe and Family Tree DNA test your X chromosome when they do their autosomal testing.

The X chromosome has a unique inheritance path which is different for men and women.  If you recall, women inherit an X from both Mom and Dad, but males only inherit an X from Mom.  They get the Y from Dad which makes them male.  If you match someone on the X chromosome, or you don’t, that too is powerful information.

Blaine Bettinger originally published some wonderful X inheritance charts on his blog, The Genetic Genealogist, in December 2008 and January 2009 documenting how to use the X chromosome for genealogy.

The chart below shows the male inheritance path for the X chromosome via the colored locations.  Because males and females both inherit the X from their mother, the maternal inheritance path of the X chromosome, the right half of this chart, is the same for men and women.  In this case, we’re particularly interested in the mitochondrial DNA path as well, which is the furthest right pink line on the chart, shown with the arrows along the edge.

combined x match

Including the X chromosome matching, here are your three possible outcomes.

  • If you match autosomally, you match at the deepest (full sequence) haplogroup level and you match on the X chromosome, you may indeed have a solid lead in the direct maternal line.  It’s a lead, nothing more.  It’s not confirmation of a common autosomal ancestor in that line.
  • If you match autosomally, you do not match at the haplogroup level, but you do match on the X chromosome, then you know it’s NOT the direct maternal line but it IS one of the other lines where you share an X chromosome.
  • If you match autosomally and you do not match at either the haplogroup level or on the X chromosome, you know that you can eliminate the direct maternal line and your match is probably on a line where you don’t share the X.  I say probably because like any other DNA that is shared in an autosomal fashion, meaning divided by approximately 50% in every generation, it’s possible after several generations to not show as a match on the X but to still be descended from those lines.

Jim Turner created some nice X chromosome inheritance pedigree charts that are easily printable which you can find here.

Take Away

What’s the take-away in all of this?  These are very powerful tools, but they only tools and they provide clues.  Some clues eliminate possible connections, some clues suggest them.  It’s only through multiple tools like triangulation and old-fashioned genealogy research that we confirm them.

We’ve gotten spoiled with the relatively easy Y DNA answers.  A man tests and if he matches other men with the same surname with few mutations, we call it family and all is good.  Women don’t have that luxury and neither do adoptees, although male adoptees clearly have the advantage of a potential solid Y match.  Other types of DNA testing and analysis just aren’t as straightforward or easy, but that doesn’t mean the answer isn’t there.  Perseverance is key.  Common sense, understanding the tools and removing emotion, as much as possible, from the equation are critical.  If you’re in doubt, get help.  It’s a lot better to pay for an hour or two of consulting than to make a critical error in logic that can introduce errors into your family tree or cause you to waste time chasing the wrong lines.

Unraveling the secrets your DNA has to tell you is much like that game of Clue that we played as kids – accumulating pieces of information that, cumulatively, hopefully, lead to an answer.  Miss Scarlet did it in the ballroom with Professor Plum.  Or was it Colonel Mustard, or Reverend Green?

combined clue

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

The Warrior Gene

warrior 1

In sports, business or your personal life, how you respond to stress and aggression may be in your genes, or at least partly so.  Let’s take a look at a great documentary and the science behind it.

Human behavior is complex and influenced by our genes, our environment, and our circumstances. One of the most provocative and often controversial of genetic variants has been dubbed the “Warrior Gene.”

Studies have linked the “Warrior Gene” to increased risk-taking and to retaliatory behavior. Men with the “Warrior Gene” are not necessarily more aggressive, but they are more likely to respond aggressively to perceived conflict.

On December 14, 2010, National Geographic Channel’s Explorer: “Born to Rage?” documentary investigated the discovery behind a single “warrior gene” directly associated with violent behavior.

warrior 2

With bullying and violent crime making headlines, this controversial finding stirs up the nature-versus-nurture debate. Now, former Grammy-winning rocker, author and radio/television broadcaster Henry Rollins goes in search of carriers from diverse, sometimes violent backgrounds who agree to be tested for the genetic mutation. Who has the warrior gene? And are all violent people carriers? The results turn assumptions upside down.

warrior 3

A rock band front man. A bullet-scarred Harley rider. A former gang member from East L.A. Even a Buddhist monk with a far-from-peaceful past. Which one carries the gene associated with violence? An extraordinary discovery suggests that some men are born with impulsive, aggressive behavior … but it’s not always who you think.

It’s a hotly debated topic: nature versus nurture. Many experts believe our upbringing and environment are the primary influences on our behavior, but how much are we predisposed by our DNA? The discovery of a single gene variation affecting only men, which appears to play a crucial role in managing anger, argues that nature may have a far bigger influence on behavior. It’s this low-functioning, shortened gene linked to violent behavior that has become known as the “warrior gene,” and one-third of the male population has it.

One of those men, who describes himself as “fairly furious all the time” and agrees to be tested for the gene with a simple cheek swab, is Henry Rollins — a former poster boy of youthful rebellion and the American punk scene.  Some of his tattoos are too provocative and socially offensive to show. 

warrior 4

In this special Explorer episode, he dives into his own history of rage and searches out others with aggressive behavior from a range of different backgrounds. “If you can think of a stove, and the pilot light is always on, always ready to light all four burners, that is me, all the time,” he says. “I’m always ready to go there.”

Follow Rollins as he meets with former foot soldiers in one of the most violent street gangs in East Los Angeles; fighters in the ultraviolent sport of mixed martial arts, and Harley Davidson bikers. He’ll also talk to a Navy SEAL veteran and Buddhist monks whose lives weren’t always so tranquil.

After learning more about the warrior gene, many of the men believe they have it, which could offer an explanation of their past behavior. Their sentiment mimics Rollins as he says, “If I find out that I have the warrior gene, that would be interesting. If I find out I don’t, I must say, I would feel a bit of disappointment.” As the anticipation builds, be there when they receive the surprising outcome of the test.

Explorer VII: Inside the Warrior Gene NGCUS Episode Code: 4833

Then, Explorer takes a look at the original study — on one family with generations of men displaying patterns of extreme physical aggression — that led Dutch geneticist Dr. Han Brunner to the revolutionary discovery of this rare genetic dysfunction. We’ll also take a look at new revelations that warrior gene carriers are significantly more likely to punish when provoked. In one study attempting to demonstrate this, subjects are given permission to administer punishment to their partner (who was secretly instructed to make a nuisance of himself), with unexpected results.

For any man questioning his inner warrior, a simple cheek swab test is available at Family Tree DNA.

So wanna know who, in the documentary, had the warrior gene?  Well, hint….it wasn’t the biker…although his lady assured him he would always be her warrior.  But I’m not going to tell you who does have it.  All I’ll say is that you’ll be amazed at the outcome.  The link to watch the video is below.  Enjoy!

http://topdocumentaryfilms.com/born-rage-inside-warrior-gene/

The Science

Let’s take a look at the actual science behind this most interesting and controversial mutation.

The Warrior Gene is a variant of the gene MAO-A on the X chromosome and is one of many genes that play a part in our behavioral responses. The “Warrior Gene” variant reduces function in the MAOA gene. Because men have one copy of the X-chromosome, a variant that reduces the function of this gene has more of an influence on them. Women, having two X-chromosomes, are more likely to have at least one normally functioning gene copy, and scientists have not studied variants in women as extensively.

Recent studies have linked the Warrior Gene to increased risk-taking and aggressive behavior. Whether in sports, business, or other activities, scientists found that individuals with the Warrior Gene variant were more likely to be combative than those with the normal MAO-A gene. However, human behavior is complex and influenced by many factors, including genetics and our environment. Individuals with the Warrior Gene are not necessarily more aggressive, but according to scientific studies, are more likely to be aggressive than those without the Warrior Gene variant.

This test is available for both men and women, however, there is limited research about the Warrior Gene variant amongst females. Additional details about the Warrior Gene genetic variant of MAO-A can be found in the paper titled “A functional polymorphism in the monoamine oxidase A gene promoter” by Sabol et al, 1998.

When testing for the Warrior Gene, we are looking for an absence of MAOA (monoamine oxidase A) on the X chromosomes. Based on how many times we see the repeat of a certain pattern on the X or Xs we can tell if the MAOA is present or absent (depleted). Three repeats of the pattern indicates that the X chromosome is deficient of MAOA and therefore you have the Warrior Gene. If we see 3.5, 4 or 5 repeats of the pattern, MAOA is present and this is a normal variant of the gene on your X chromosome.

warrior 6However, women have 2 X chromosomes where men have 1 X and 1 Y. As mentioned above, the gene is carried on the X chromosome, so women can either have it 1) not at all, 2) on only 1 X (therefore making them a carrier), or 3) on both Xs (exhibiting the trait).

Looking at results, with one X-chromosome, men with the “Warrior Gene” will show a value of 3. Other men will have normal variants: 3.5, 4, 4.5 or 5. With two X-chromosomes, women will have two results. For example, a woman might have 3 and 3, 3 and 5, or 4.5 and 5.

This first example is of a female with one copy of the normal variant and one copy of the Warrior Gene indicated by a value of 3.

warrior 7

In the second example, shown below, this female has the Warrior Gene trait, because she carries the Warrior Gene depletion, shown as a value of 3, on both of her chromosomes, the one contributed to her by her father and the one contributed to her by her mother.  This also tells us that her father has the Warrior Gene, since he carries only the X chromosome contributed by his mother, which he gave to his daughter.  It also tells us that her mother was either a carrier, if she had only the one copy she gave to her daughter, or had the Warrior Gene herself is she carried two copies.

warrior 8

A male’s results would have only one result listed.  If he has a value of 3, he had the Warrior Gene.  Any other value is NOT indicative of the Warrior Gene.

Happiness Gene in Women

In an unexpected turn of events, in August 2012, another study in the journal Progress in Neuro-Psychopharmacology & Biological Psychiatry indicates that while this gene may express as aggression in men, it may be the happiness gene in women.  Even women with only one copy of the gene were shown to be happier than women who carry no copies. A study of 193 women and 152 men evaluated their happiness level and women who carried this mutation on one or both X chromosomes rated themselves as significantly happier than women who did not carry this trait.  There was no difference in the male participants.

http://www.livescience.com/22789-gene-linked-to-happiness-in-women.html

Caveat

Among the many advances and discoveries of modern DNA and genetics are ‘scientific’ oddities. These genetic wonders make it into popular culture and sometimes develop a life there that far outpaces their academic worth.  But they are interesting. These factoids are best used as ‘cocktail party conversation’ starters or maybe a good way to tease Uncle Leo at the family picnic. Family Tree DNA, where you can find out if you have the Warrior Gene, portrays it to their customers as just that, a novelty.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

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Genealogy Research

Phasing the X Chromosome

The X chromosome lives a genetic and genealogical life all of its own because of its unique inheritance properties which vary depending on whether you are a male and inherit the X only from your mother, or a female an inherit an X chromosome from both parents.  Because of this, it’s a great, and often untapped, resource for genealogists.

I covered how this works in my blog titled X Marks the Spot.  Jim Owston, however, has gone another step further and documented how to phase that X chromosome, meaning how to assign pieces of it to specific ancestors.  This is a great educational piece and tool for us genealogists, so please, take a look:

http://linealarboretum.blogspot.com/2012/11/phasing-x-chromosome.html

Great work Jim!!!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Family Tree DNA Conference 2012 – Nits and Grits

First things first!  I want to thank Max and Bennett for graciously hosting the 8th Annual Genetic Genealogy Conference in Houston, Texas!  This is actually the 9th year, but a pesky hurricane interfered one year.  Max and Bennett are very generous with their time and resources and heavily subsidize this conference for us.  We’re registering in the photo above.

Georgia Kinney Bopp said it best.  At some point during this amazing conference, someone tweeted an earlier quote from a conversation between Ann Turner and Georgia:

“it’s hard to realize you’re living history while it happens…”

This was ever so true this weekend.  Even my husband (who is not genetic genealogy crazy) realized this.  I’m not sure everyone at the conference did, or realized the magnitude of what they were hearing, as we did have a lot of newbies.  Newbies are a good thing.  It means our obsessive hobby and this industry have staying power and there will be people to pass the torch to someday.

I’ve already covered the Native American focus meeting in an earlier blog.

For those of you who want the nitty gritty play by play as it happened at the conference, go to www.twitter.com and search for hashtag #ftdna2012.  If you want some help with Twitter, I blogged about that too.  Twitter is far from perfect, but it is near-realtime as things are happening.

As always, Family Tree DNA hosts a reception on Friday evening.  This helps break the ice and allows people to put faces with names.  So many of us “know” each other by our e-mail name and online presence alone.

We had a special guest this year too, Nina, a little puppy who was rescued by Rebekah Canada just a few days before the conference.  Nina behaved amazingly well and many of us enjoyed her company. 

Bennett opened the conference this year, and in the Clint Eastwood political tradition, spoke to his companion, the chair named Max.  The real Max, it turns out, was losing his voice, but that didn’t prevent him from chatting with us and answering questions from time to time.

While Bennett was very low key with this announcement, it was monumental.  He indicated that the parent company of Family Tree DNA has reorganized a bit.  It has changed its name to Gene by Gene and now has 4 divisions.  You can check this out at www.genebygene.com.  This isn’t the monumental part.

The new division, DNADTC’s new products are the amazing parts.  Through this new division, they are the first commercial company to offer a full genome sequence test.  The price, only $5495.  For somewhat less, $695, they are offering the exome, which are your 20,000 genes.  Whoever though it would be a genetic genealogy company who would bring this to the public.  Keep in mind that the human genome was only fully sequenced in 2003 at a cost of 3 billion dollars.

The amazing part is that a full genome sequence cost about 3 million in 2007 and the price will continue to fall.  While consumers will be able to order this, if they want, it comes with no tools, as it is focused at the research community who would be expected to have their own analytical tools.  However, genetic genealogists being who and what they are, I don’t expect the research market will outweigh the consumer market for long, especially when the price threshold reaches about $1000.

Bennett also said that he expects that National Geographic will, in 2013 sometime, decide to allow upgrades from Family Tree DNA clients for the Geno 2.0 product.  This will allow those people who cannot obtain a new sample to participate as well.  However, an unopened vial will be required.  No promises as to when, and the decision is not his to make.

The first session was Spencer Wells via Skype from Italy.  Spencer has just presented at two conferences within the week, one in San Francisco and one in Florence, Italy.  Fortunately, he was able to work us into his schedule and he didn’t even sound tired.

Of course, his topic was the Geno 2.0 test which is, of course, run on the new GenoChip.  The first results are in the final stages of testing, so we should see them shortly.  Sometime between the 19th and the end of the month.

This product comes with all new migration maps.  He showed one briefly, and I noticed that one of the two Native Y-lines are now showing different routes than before.  One across Siberia, which hasn’t changed, and one up the pacific rim.  Hmmm, can’t wait for that paper.

The new maps all include heat maps which show frequency by color.  The map below is a haplogroup Q heat map, but it is NOT from the Geno project.  I’m only using it as an example.

Spencer indicated that the sales of the 2.0 product rival those of the 1.0 product and that they have sold substantially more than 10K and substantially less than 100K kits so far.  In total, they have sold more than 470,000 kits in over 130 countries.  And that’s just the public participation part, not the indigenous samples.  They have collected over 75,000 indigenous samples from more than 100 populations resulting in 36 publications to date with another half dozen submitted but not yet accepted.  Academic publication is a very long process.

Nat Geo has given 62 legacy grants to indigenous communities that have participated totaling more than 1.7 million dollars.  That money comes in part from the public participation kits, meaning Geno 1.0 and now 2.0.

Geno 2.0 continues to be a partnership between National Geographic and Family Tree DNAFamily Tree DNA is running all of their samples in the expanded Houston lab.  Also added to the team is Dr. Eran Elhaik at Johns Hopkins University who has developed a new tool, AIMSFINDER, that locates never before identified Ancestral Informative Markers to identify population specific markers.  This is extremely important because it allows us to read our DNA and determine if we carry the markers reflective of any specific population.  Well, we don’t do the reading, they do with their sophisticated software.  But we are the recipients with the new deep ancestral ethnicity results which are more focused on anthropology than genealogy.  Spencer says that if you have 2% or more Native American, they can see it.  They have used results from both public and private repositories in developing these tools.

This type of processing power combined with a new protocol that tests all SNPS in a sequence, not just selected ones, promises to expand the tree exponentially and soon. It has already been expanded 7 fold from 863 branches of the Y tree to 6153 and more have already been discovered that are not on the GenoChip, but will be in the next version.

The National Geographic project will also be reaching out to administrators and groups who may have access to populations of interest.  For example, an ex-pat group in an American city.  Keep this in mind as you think of projects.

Another piece of this pie is a new educational initiative in schools called Threads.

This isn’t all, by any means, on this topic, I really do encourage you to go and use Twitter hashtag #ftdna2012.  Several of us were tweeting and the info was coming so fast and furious that no one could possibly get it all.

The future with Nat Geo looks exceedingly bright.  We have gone from the Barney Rubble age to the modern era and now there is promise for a rosy and as yet undiscovered future.

Judy Russell was next.  I have to tell you, when I saw where they positioned her, I was NOT envious.  I mean, who wants to follow Spencer Wells, even if he’s not there in person.  Well, if anyone was up to this, it certainly was Judy.  For those who don’t know, she blogs as The Legal Genealogist.

Judy is one of us.  That means she actually understands our industry, what drives genealogists and why.  In addition to being a lawyer, she is a certified genealogist and a genetic genealogy crazy too.  Maybe I shouldn’t call a lawyer crazy….well…it was meant as a compliment:)

Judy has the perspective to help us, not just criticize us remotely.  She reviewed several areas where we might make mistakes.  After all, we’re all volunteers coming from quite varied backgrounds.  She suggests that we all put some form of disclosure on our projects explaining what participants can expect in terms of use.  She used the Core Melungeon project as a good example, along with the Fox project.

“The goal of this project is to use DNA to better understand the origins of the Melungeon people, and this will be done by comparing the DNA with other project members, those outside of projects, and will incorporate relevant genealogical and historical research. All participants will be included in the ongoing studies and by joining the project, you are giving consent for your information to be anonymously included in ongoing genetic genealogy research. Your personal identity will not be revealed, but your results will be used to better understand the Melungeons as a people and their ancestors.”

From the Fox project:

“The exact function of these STR markers is not yet known and they have no known medical function but recent research shows they have some sort of regulatory function on the genes. While there is no medical information in these numbers, the absence of a certain few markers near a fertility gene could indicate sterility – something that would certainly already be known.

The results do provide a partial means of personal identification and, for this reason, our haplotype tables list only the FTDNA kit number and the most distant known male line ancestor. Within the project, however, the administrators feel free to disclose identities, particularly when a close match occurs.”

Judy’s stressed that we not tell people that there is no medical information revealed.  Partially, because we’ve discovered in rare cases that’s not true, and partially because we can’t see into the future.

Judy talked about regulation and that while we fear what it might intentionally or inadvertently do to genetic genealogy, it’s important to have regulations to get rid of the snake oil salesman, and yes, there are a couple in genetic genealogy.  They give us all a black eye and a bad name when people discover they’ve been hoodwinked. However, without regulation of some sort, we have no legal tools to deal with them.

Regulation certainly seems to be a double-edged sword.

I hope that Judy writes in her blog about what she covered in her session, because I think her message is important to all administrators and participants alike.  And just to be clear, the sky is not falling and Judy is not Chicken Little.  In fact, Judy is the most interesting attorney I have ever heard speak, and amazingly reasonable too.  She actually makes you WANT to listen, so if you ever get the chance to see one of her webcasts or attend one of her sessions, take the opportunity.

Following the break, breakout sessions began.  CeCe Moore ran one about “Family Finder,” Elise Friedman about “Group Administration” and Thomas Krahn provided the “Walk the Y Update.”  Bennett called this the propeller head session.  Harumph Bennett.  Guess you know which one I attended.  All sessions were offered a second time on Sunday.

Thomas said that they have once again upgraded their equipment, doubling their capacity again.  This gives 4 times the coverage of the original Walk the Y, covering more than 5 million bases.  To date, they have run 494 pre-qualified participants and of those, 198 did not find a new SNP.

There are changes coming in how the palindromic region is scored which will change the matches shown.  Palindromic mismatches will now be scored as one mutation event, not multiples.  Microalleles will able be reported in the next rollout version, expected probably in January.  The problem with microalleles is not the display, but the matching routine.

Of importance, there has not been an individual WTY tested from haplogroups B, M, D or S, and we need one.  So if you know of anyone, please contact Thomas.

Thomas has put his Powerpoint presentation online at  http://www.dna-fingerprint.com/static/FTDNA-Conference-2012-WalkThroughY.pdf

The next session by Dr. Tyrone Bowes was “Pinpointing a Geographical Location Using Reoccurring Surnames Matches.”  For those of us without a genetic homeland, this is powerful medicine.  Dr. Bowes has done us the huge favor of creating a website to tell us exactly how to do this.  http://www.irishorigenes.com/

He uses surnames, clan maps, matches, history and census records to reveal surname clusters.  One tidbit he mentioned is that if you don’t know the family ethnicity, look at the 1911 census records and their religion will often tell you.  Hmm, never thought of that, especially since our American ancestors left the homeland long ago.  But those remaining in the homeland are very unlikely to change, at least not in masse.  I’m glad he gave this presentation, or I would never have found his webpage and I can’t wait to apply these tools to some of my sticky-wickets.

This ended Saturday’s sessions, but at the end of every day, written questions are submitted for that day’s presenters or for Family Tree DNA.

Bennett indicated that another 3000 or 4000 SNPs will be added to the Family Finder calculations and a new version based on reference samples from multiple sources will be released in January.

Bennett also said that if and when Ancestry does provide the raw downloadable data to their clients, they will provide a tool to upload so that you can compare 23andMe and Ancestry both with your Family Finder matches.

Saturday evening is the ISOGG reception, also called the ISOGG party.  Everyone contributes for the room and food, and a jolly good time is had by all.  There is just nothing to compare with face to face communications.

For me, and for a newly found cousin, this was an amazing event.  A person named Z. B. Stroud left me a message that she was looking for me.  When I found her, along with her friend and cousin Revis, she tells me that she matches me autosomally, at 23andMe, and that she had sent me a sharing request that I had ignored.  I am very bad about that, because unless someone says they are related, I presume they aren’t and I don’t like to clutter up my list with non-related people.  It makes comparisons difficult.  My bad.  In fact, I’m going right now to approve that sharing request!!!

I will blog about this in the future, but without spilling too many beans….we had a wonderful impromptu family reunion.  We think our common ancestor is from the Halifax and Pittsylvania County region of Virginia, but of course, it will take some work to figure this out.

I’m also cousins with Revis Leonard (second from left).  We’ve known that for a long time, but Z.B. whose first name is Brisjon (second from right) is new to genealogy, DNA and cousin matching. I’m on the right above.  The Stroud project administrator, Susan Milligan, also related to Brisjon is on the left end.  In the center are Brisjon’s two cousins who came to pick her up for dinner and whom she was meeting for the first time.

But that’s not all all, cousin Brisjon also matches Catherine Borges.  Let me tell you, I know who got the tall genes in this family, and I’m not normally considered short.  Brisjon’s genealogical journey is incredibly amazing and she will be sharing it with us in an upcoming book.  Suffice it to say, things are not always what you think they are and Brisjon is living proof.  She also met her biological father for the first time this weekend!  I’m sure Houston and her 2012 visit where she met so many family members is a watershed event in her lifetime!  She is very much a lovely lady and I am so happy to have met her.  Cousins Rule!

ISOGG traditionally has its meeting on Sunday morning before the first session.  Lots of sleepy people because everyone has so much fun at the ISOGG party and stays up way too late.

Alice Fairhurst, who has done a remarkable job with the ISOGG Y SNP tree (Thank you Alice!) knows an avalanche is about to descend on her with the new Geno 2.0 chip.  They are also going to discontinue the haplogroup names, because they pretty much have to, but will maintain an indented tree so you can at least see where you are.  The names are becoming obsolete because everytime there is an insertion upstream, everything downstream gets renamed and it makes us crazy.  It was bad enough before, but going from 860+ branches to  6150+ in one fell swoop and knowing it’s probably just the beginning confirms the logic in abandoning the names.  However, we have to develop or implement some sort of map so you can find your relative location (no pun intended) and understand what it means.

Alice also mentioned that they need people to be responsible for specific haplogroups or subhaplogroups and they have lost people that have not been replaced, so if anyone is willing or knows of anyone….please contact Alice.

Alice also makes wonderful beaded double helix necklaces.

Brian Swann (sorry, no picture) is visiting from England this year and he spoke just a bit about British records.  He said it’s imperative to learn how they work and to use some of the British sites where they have been indexed.  He also reminded us to check GOONS (Guild of One Name Studies) for our surnames and that can help us localize family groups for recruiting.  He said that you may have to do family reconstructions because to get a Brit to test you have to offer them something.  That’s not terribly different from over here.  He also mentioned that today about half of the British people having children don’t marry, so in the next generation, family reconstruction will be much more difficult.  That too isn’t so terribly different than here, although I’m not sure about the percentages.  It’s certainly a trend, as are varying surname practices even within marriage.

Dr. Doron Behar began the official Sunday agenda with a presentation about the mtCommunity and a discussion of his recently published paper “A ‘Copernican’ Reassesement of the Human Mitochondrial DNA Tree from its Root.”  This paper has absolutely revolutionized the mitochondrial DNA community.  I blogged about this when the paper was first released and our home pages were updated.    One point he made is that it is important to remember is that your mutations don’t change.  The only thing that changes between the CRS (Cambridge Reference Sequence) and the RSRS (Reconstructed Sapiens Reference Sequence)  model is what your mutations are being compared to.  Instead of being compared to someone from Europe who live in 1981 (the CRS) we are now comparing to the root of the tree, Mitochondrial Eve (RSRS) as best we can reconstruct what her mitochondrial DNA looked like.

He also said that when people join the mtCommunity, their results are not automatically being added to GenBank at NCBI.  That is a separate authorization check box.

A survey was distributed to question participants as to whether they want results, when they select the GenBank option, to be submitted with their kit number.  Now, they are not, and they are under Bennett’s name, so any researcher with a question asks Bennett who has no “track back” to the person involved.  About 6000 of the 16,000 submissions today at GenBank are from Family Tree DNA customers.  Dr. Behar said that by this time next year, he would expect it to be over half.  Once again, genetic genealogy pioneers are leading the way!

At these conferences, there is always one session that would be considered the keynote.  Normally, it’s Spencer Wells when he is on the agenda, and indeed, his session was wonderful.  But at the 2012 conference, this next session absolutely stole the show.  Less public by far, and much less flashy, but at the core root of all humanity.

You can’t really tell from the title of this session what is coming.  Michael Hammer with Thomas Krahn and Bonnie Schrack, one of our own citizen scientists, presented something called “A Highly Divergent Y Chromosome Lineage.”  Yawn.  But the content was anything but yawn-material.  We literally watched scientific discovery unfold in front of our eyes.

Bonnie Schrack is the haplogroup A project administrator.  Haplogroup A is African and is at the root of the entire haplotree.  One of Bonnie’s participants, an African American man from South Carolina agreed to participate in WTY testing.  In a nutshell, when Thomas and Astrid began scoring his results, they continued and continued and continued, and wound up literally taking all night.  At dawn’s first light, Thomas told Astrid that he thought they had found an entirely new haplogroup that preceded any known today.  But he was too sleep deprived to be sure. Astrid, equally as sleep deprived, replied with “Huh?” in disbelief.  It’s certainly not a statement you expect to hear, even once in your lifetime.  This is a once in the history of mankind event.

Dr. Michael Hammer confirmed that indeed, they had discovered the new root of the human Y tree.  And not by a little either, but by a lot.  For those who want to take a look for yourself, Ysearch ID 6M5JA.  Hammer’s lab did the age projection on this sample, and it pushed the age of hominid men back by about 100,000 years, from 140,000 years ago to 237,000 years ago.  They then reevaluated the aging on all of the tree and have moved the prior date to about 200,000 years ago and the new one to about 338,000 years ago with a 98% confidence level.  This is before the oldest fossils that have been found, and also before the earliest mitochondrial DNA estimate, which previously had been twice as old as the Yline ancestor.

The previous root, A1b has been renamed A0 and the new root, just discovered is now A00.  Any other new roots discovered will simply get another zero appended.

How is it that we’ve never seen this before?  Well, it turns out that this line nearly went extinct.  Cruciani published a paper in 2012 that included some STR values that matched this sample, but fortunately, Michael Hammer’s lab held the actual samples.  A search of academic data bases reveals only a very few close matches, all in western Cameroon near the Gulf of Guinea.  Interestingly, next door, in Nigeria, fossils have been found younger than this with archaic features.  This is going to cause us to have to reevaluate the source of this lineage and with it the lineage of all mankind.  We must now ask the question about whether perhaps we really have stumbled upon a Neanderthal or other archaic lineage that of course “became” human.  Like many scientific discoveries, this answer only begs more questions.  My husband says this is like Russian tea dolls where ever smaller ones are nested in larger ones.

This discovery changes the textbooks, upsets the proverbial apple cart in a good way, and will keep scientists’ thinking caps on for years.  And to think, this was a result of one of our projects, an astute project administrator (Bonnie) and a single project member.  I wonder what the man who tested thinks of all of this. He is making science and all he thought he was doing was testing for genealogy.  You just never know where the next scientific breakthrough will come from.  Congrats to all involved, Bonnie, Thomas, Michael and to Bennett and Max for having this evolution revolution happen right in their lab!

If I felt sorry for Judy following Spencer, I really felt sorry for the breakout sessions following Thomas, Michael and Bonnie’s session.  Thankfully at least we had a break in-between, but most people were wandering around with some degree of stunned disbelief on their faces.  We all found it hard to fathom that we had been among the first to know of this momentous breakthrough.

I had a hard time deciding which session to attend, CeCe’s “Family Finder” session or Elise’s.  I decided to attend Elise’s “Advanced Admin Techniques” because I work with autosomal DNA with my clients and I tend to keep more current there.  Elise’s session was great for newer admins and held tips and hints for us old-timers too.  I realized I really need to just sit down and play with all of the options.

There are some great new features built in that I’ve never noticed.  For example, did you know that you can group people directly from the Y results chart without going to the subgrouping page?  It’s much easier too because it’s one step.  However, the bad news is that you still can’t invite someone who has already tested to join your project.  Hopefully that feature will be added soon.

The next session was “A Tale of Two Families” given by Rory Van Tuyl detailing how he used various techniques to discern whether individuals who did not show up as matches, meaning they were beyond the match threshold, were actually from the same ancient family or not.  Rory is a retired engineer and it shows in his attention to detail and affinity for math.

We always tell people that mutations can and do happen at any time, but Rory proved this.  He ran a monte-carlo simulation and showed that in one case, it was 50 generations between mutations, but in others, there was one mutation for three generations in a row.  Mutations by no means happen at a constant rate.  Of course, this means that our TIP calculator which has no choice but to use means and averages is by definition “not calibrated” for any particular family.

He also mentioned that his simulation shows that by about 150 generations, there are a couple of back mutations taking place.

The final session before the ending Q&A was Elliott speaking about IT, which really translates into new features and functions.  Let’s face it, today everything involves IT.

Again, I was having trouble typing fast enough, so you might want to check the Twitter feed.

They added the SNP maps (admins, please turn them on) and the interactive tour this year.  The tour isn’t used as much as it should be, so everyone, encourage your newbies to do this.

They have also added advanced matching, which I use a lot for clients, but many people didn’t realize it.  So maybe a quick tour through the website options might be in order for most of us.

They are handling 50 times more data now that a year ago.  Just think what next year will bring.  Wow.

They are going to update the landing page again with more color and more visible options for people to do things.  I hope they prompt people through things, like oldest ancestor mapping, for example.  Otherwise, if it isn’t easy, most don’t.

They are upgrading Population Finder and the Gedcom viewer.  They are adding a search feature.  Thank you!!  Older Gedcome will still be there but not searchable.

But the best news is that they are adding phasing (parent child) and an advanced capability to “reconstruct” an ancestor using more distant relatives, then the ability to search using that ancestral profile against Family Finder.  Glory be!  We are finally getting there.  Maybe my dreaming big wasn’t as far away as I thought.

They will also remove the 5 person autosomal download restriction and the “in common with” requirement to see additional information.  All good news.  They are also upgrading the Chromosome browser to add more filtering options.

They are also going to offer a developer “sandbox” area for applications.

The final Q&A session began with Bennett saying that their other priorities preclude upgrading Y search to 111 markers.

They are not planning to drop the entry level tests, 12 or 25 markers or the HVR1. If they do, lots of people will never take that plunge.  I was very glad to hear this.

And by way of trivia, Family Tree DNA has run more than 5 million individual tests.  Wow, not bad for a company that didn’t exist, in an industry that didn’t exist, 12 years ago!

It’s an incredible time to be alive and to be a genetic genealogist!  Thank you Family Tree DNA for making all of this possible.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

4 Kinds of DNA for Genetic Genealogy

Let’s talk about the different “kinds” of DNA and how they can be used for genetic genealogy.

It used to be simple. When this “industry” first started, in the year 2000, you could test two kinds of DNA and it was straightforward. Now we’ve added more DNA, more tools and more testing companies and it’s not quite so straightforward anymore. But’s it’s a LOT better for genealogists.

Four Kinds of DNA

There are 4 different kinds of DNA that genealogists can use to provide information about our ancestors.

1. Y DNA for males onlyFamily Tree DNA tests the Y chromosome which is passed from father to son, along, in most cases, with the surname. Only men can take this test, because only men have a Y chromosome.

Female genealogists need to ask their fathers, brothers, uncles and male cousins to test for the surnames in question. You can read the article, Concepts – Who to Test for Your Father’s DNA.

Family Tree DNA compares the results of the Y chromosome test between males to see if they match and are related in a genealogical timeframe.

Testers also obtain their haplogroup which is a genetic clan and tells your ancestral story of deep ancestry, such as European, African, Asian or Native American heritage.

Family Tree DNA sponsors free surname, haplogroup and other special interest projects, such as American Indian or regional projects. Projects are indispensable for both genealogy and genetic genealogy research and everyone can join.

Family Tree DNA is currently the only testing company that offers Y DNA testing providing matching, projects and other tools, including the advanced Big-Y test. Y DNA test levels include 37, 67 and 111 markers in addition to the Big Y test which provides a minimum of 700 markers and extremely granular advanced haplogroup testing.

Generally beginning with the 67 or 111 marker tests is recommended, as testers can upgrade after their initial results have arrived. Testing more markers is how one determines who they are related to most closely in time. The Y DNA test is great in combination with the Family Finder autosomal test and advanced matching allows you to see who you match on both tests.

You can read more in my article, Working with Y DNA – Your Dad’s Story.

You can click here to order a Y DNA test.

2. Mitochondrial DNA for everyoneMitochondrial DNA tracks your matrilineal line and is passed generationally from mother to mother to mother to both genders of her children, but only females pass it on.

Males carry their mother’s mitochondrial DNA but they don’t pass it to their children.

Like Y DNA, mutations are compared to see if testers share an ancestor in a genealogical timeframe, but because the surname changes in every generation, it’s more difficult genealogically to make the connections.

Mitochondrial DNA testing also provides a haplogroup which defines deep ancestry, such as European, African, Asian or Native American.

Family Tree DNA offers free haplogroup and other special interest projects such as the AcadianAmerindian Project.

Family Tree DNA is the only testing company that tests mitochondrial DNA including matching, projects and tools, and offers two levels of testing.

The mtPlus level provides a base haplogroup and matching, but only tests about 2000 locations of the mitochondria. In order to obtain a complete haplogroup and the most granular matching possible, testers will want to order the mtFull, full sequence test which tests all 16,569 locations and makes matching and other tools significantly more useful.

You can read my 4 part series about mitochondrial DNA beginning with the first article:

Articles 2, 3 and 4 in the mitochondrial series are useful after you’ve received your test results.

You can click here to order a mitochondrial DNA test.

Inheritance Paths

The paths of inheritance for both the paternal YDNA, blue, and the mitochondrial DNA, red, are shown below.

Autosomal DNA is inherited from all of your ancestors shown in the pedigree chart above, and further back in time as well. Y DNA and mitochondrial DNA are extremely important to inform us about the specific ancestry, both near and deep, of one line each, while autosomal DNA provides us with a different type of information about a wide range of ancestors.

In addition to Family Tree DNA who provides testing, mitoYDNA, a non-profit has begun accepting transfers for matching. Additionally, both WikiTree and Geni allow users to associate Y and mitochondrial DNA with specific ancestors.

3. Autosomal DNA for everyone – Autosomal DNA tests the DNA contributed by both parents on the 23 chromosomes, not just two direct lines as with Y DNA and mitochondrial DNA.

While Y DNA and mitochondrial DNA are never recombined with the DNA from the other parent, you do receive half of your autosomal DNA from each parent. Autosomal DNA is recombined in each generation, so each new generation inherits less DNA from previous generations.

The inheritance paths for autosomal DNA are shown below.  You can see that this includes all of the various ancestral lines, including the lines that also contribute the Y-line and mitochondrial, but those are separate and different tests providing different kinds of information.

Autosomal DNA tests are provided by:

You can order an autosomal DNA test by clicking on the vendors’ links, above.

These tests provide ethnicity estimates and a list of cousin matches from all of your ancestral lines, but it’s up to you to figure out how these cousins are related to you. Various testing companies provide different tools to help in this quest, each having their own strengths.

All four companies provide the ability to download your raw data results so that you can perform further analysis by using several online tools, the most popular being GedMatch, DNAPainter, Genetic Affairs and DNAGedcom.

Many articles on this blog are devoted to working with autosomal DNA and is entirely key word searchable for your convenience.

4. The X Chromosome – The X chromosome is included as part of autosomal DNA testing. The X chromosome has special inheritance properties that allow people to use these results separately from the rest of the autosomal results.

The 23rd pair of chromosomes define your biological sex. If a father contributes his Y chromosome, the child will be male. If a father contributes his X, the child will be female. Mothers always contribute an X, because they don’t have a Y chromosome.

The inheritance path of the X chromosome is different for males and females, because males only inherit an X chromosome from their mother (and a Y from their father which makes them male), but women inherit an X from both of their parents. Therefore, an X match with another tester can eliminate several potential ancestors. For males, an X match must come from his mother’s side of his tree.

You can read about X matching, along with a helpful X inheritance chart, in the article, Who Tests the X Chromosome?

Getting Started

You need to test before you can receive results to jump start your genealogy.

I recommend that every genealogist do the following:

  • Test your Y DNA or the Y DNA of your paternal lines by recruiting others
  • Test your mitochondrial DNA
  • Build a DNA Pedigree chart
  • Test with or transfer your autosomal DNA to all 4 vendors. Different people test at different locations. I have important matches at each vendor who have never tested elsewhere.
  • Upload your autosomal DNA file to GedMatch for additional functionality. It’s free with some advanced functionality requiring a subscription.

Transfers

Family Tree DNA and MyHeritage accept transfers for free, with an unlock fee required for advanced tools. If you subscribe to MyHeritage, no unlock fee is required. You can begin a free trial subscription here.

Ancestry and 23andMe do not accept transfers, so you must test there directly. Ancestry requires an additional subscription for some functionality, such as seeing your matches trees and advanced features. Here are my 4 articles with instructions for how to transfer results:

Have FUN! Your ancestors are waiting on you.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

X Marks the Spot

When using autosomal DNA, the X chromosome is a powerful tool with special inheritance properties.  Many people think that mitochondrial DNA is the same as the X chromosome.  It’s not.

Mitochondrial DNA is inherited maternally, only.  This means that mothers give their mitochondrial DNA to all of their children, but only the females pass it on.  So tracking mitochondrial DNA back up your tree, it goes to your mother, to her mother, to her mother, until you run out of direct line mothers on that branch.  The mitochondrial DNA is shown by the red shading below.  The Y chromosome is blue.

Mitochondrial DNA is not one of the 23 chromosomes you obtain from both of your parents.

The X chromosome is different.  The X chromosome is one of the 23 pairs of chromosomes.  The 23rd pair is the pair that dictates the gender of the child.  If a child has an X and a Y, it’s a male.  Remember that the father contributes the Y chromosome to male children only.  If the child has two X chromosomes, it’s a female.

The inheritance patterns for the X chromosome for males and females is therefore different.  Men inherit only one X chromosome, from their mother, while women inherit two Xs, one from their mother and one from their father.  In turn, their parents inherited their X in a specific way as well.  All ancestors don’t contribute to the X chromosome.

In my paper published in the Journal of Genetic Genealogy (Vol. 6 #1) in the fall of 2010, in a paper titled Revealing American Indian and Minority Heritage Using Y-line, Mitochondrial, Autosomal and X Chromosomal Testing Data Combined with Pedigree Analysis, in addition to other types of analysis, I analyzed my X chromosome and what it told me about where some of my Native and African inheritance came from.

At that time, the only company returning ethnicity information about the X chromosome was deCode genetics.  My X chromosome showed that I carried Native American heritage on the X chromosome as well as on some other chromosomes.

I’m going to share the part of this paper involving the X chromosome and how it can be used genealogically and in particular, to identify candidates who could have contributed this Native and African ancestry.

Blaine Bettinger granted me permission to use 2 charts in the paper and again for this blog.  Thanks much, Blaine.  He originally published them on his blog, The Genetic Genealogist, in December 2008 and January 2009 in his blogs about how to use the X chromosome for genealogy.

The first chart shown below is the male’s X chromosome inheritance chart.  You can see that he only obtains his X chromosome from his mother who inherited it from both her mother and father, but only from some of her ancestors on either side.

The next chart is the female’s inheritance chart.  She obtains her X from both of her parents.

Blaine color coded these, pink for females and blue for males, so I was then able to quickly use them to fill in my ancestor’s names.  I know this next chart looks messy, but it’s what I did and I still refer to this regularly.  I don’t’ expect you to READ this, I expect you’ll DO something like this with your own pedigree chart.  So excuse the look into my messy closet:)

I numbered the slots so that I could work with them later.

The results were quite surprising.  The first thing that became immediately evident is that I didn’t have to worry about a few lines.  On the chart below, you can see that my mother’s German lines could be immediately eliminated, because we know they were not the source of the Native American heritage.

This leaves only three individuals on the mother’s side as candidates for Native ancestry.  Those are the numbered slots between the German lines.

The people below correspond to the numbered slots above.  See, I told you that you didn’t need to read the chicken scratch chart.

5 – Naby (probably short for Abigail), last name unknown but may be Curtis, born in Connecticut in about 1793.

7 – Capt. Samuel Mitchell, born probably about 1700, possibly in Kittery, Maine or possibly in Europe, mother unknown.  This line is probably eliminated.

8 – Captain Mitchell’s wife, Elizabeth, last name unknown

Using the pedigree chart, we narrowed the mother’s side from 21 possible slots to 5 with one more probably eliminated.  Of these, mitochondrial DNA sampling of the descendants of the two women whose last name is unknown would produce the answer to the question of maternal Native or African ancestry.

The father’s side is more complex because many of his ancestors immigrated in the colonial era.  Candidates for Native ancestry are as follows:

20 – Mary, wife of John Harrold (Herrald, later Harrell), born about 1750, died in 1826 in Wilkes County, NC.  She was rumored to have been Irish.

21 – Michael McDowell, born 1747 in Bedford Co., Va. – his mother is unknown.  His father was a second generation immigrant who lived in Halifax and Bedford Counties in Virginia.

22 – Isabel, wife of Michael McDowell, probably born about 1750, surname unknown, located in Virginia.

27 – Elizabeth, born about 1765, wife of Andrew McKee of Virginia.

28 – Agnes Craven is the last slot on the chart, but not the last in the line.  Her father was Col. Robert Craven born 1696 in Delaware and was well to do.  His mother is unknown.  Robert’s wife was Mary Harrison, born in Oyster Bay, New York to Isaiah Harrison and Elizabeth Wright.  These lines appear to reach back to Europe but are unconfirmed, probably eliminating these lines.

30 – Phoebe McMahon, wife of Joseph Workman, born 1745 York Co., Pa, daughter of Hugh McMahon, mother unknown.

31 – Gideon Faires’ mother was Deborah, born 1734, possibly in Augusta Co., Va.

32 – Sarah McSpadden’s father was Thomas McSpadden born 1721 in Ireland, eliminating this line.  Sarah’s mother was Dorothy Edmiston whose father was born in Ireland, eliminating that line.  Dorothy’s mother was named Jean and was born in 1696 but nothing further is known.

33 – Martha McCamm, born before 1743, wife of Andrew Mackie of Virginia, parents unknown.

On the father’s side, we began with 13 slots, positively eliminating one and probably eliminating a second, leaving 11.  Of these, 7 could be resolved on the maternal line by mitochondrial DNA testing.  Taken together, this side of the pedigree chart is a much better candidate for both Native and African DNA sources.  Notice all of the females who have no surnames.  These are excellent places to look for Native ancestry.  On my chicken scratch version, these are highlighted in yellow.

While the X chromosomal pedigree chart analysis is not the perfect scenario, the pedigree chart has 128 slots.  Using the X chromosome narrows the candidates to 34 slots.  Genealogy narrowed the slots to 15 and focused mitochondrial DNA testing could narrow them to 6.  Further genealogy research on those ancestors could potentially eliminate them by placing them “over the pond” or by discoveries which would facilitate DNA testing.

Marja and Me

You might recall that Marja and I are also related on our X chromosome.  In this case, since she is from Finland, the probabilities are exactly the opposite.  It’s much less likely that our connection is on my father’s or mother’s British Isles lines, and much more probable that it’s through my mother’s German lines. The early colonial settlers tended to be from the British Isles and certainly the people filling the X chromosome slots from my father’s side appear to be, with names like McDowell, McSpadden, etc.

Mother’s Anabaptist line (Brethren) is the German grouping through my mother’s father and descends from France and Switzerland,although these particiular lines don’t appear to have become Brethren until after immigrating to America.  Marja also has other matches with people from the Anabaptist project.

Those end-of-line people are:

  • Barbara Kobel – born 1713 probably Scholarie Co., NY
  • Anna Maria Deharcourt – born 1687 Muhlhofan, France, died Oley Valley, Berks Co., Pa., probable parents Jean Harcourt and wife, Susanna
  • Veronica – wife of Rudolph Hoch, born 1683 Basel, Switzerland, died 1728 Oley Valley, Berks Co., Pa.
  • Susanna Herbein – born 1698, Switzerland, father Jacob, died 1763 Oley Valley, Berks Co., Pa.
  • Jacob Lentz – born 1783 Wurttemburg, Germany, died 1870, Montgomery Co., Ohio
  • Fredericka Moselman – born 1788 Wurttemburg, Germany, died 1863 Montgomery Co., Ohio

Mother’s Dutch line is eliminated, because it’s through her father’s father.  Marja and I thought that might be a possibility, but we can see from this chart that it is not.  My father also has a Dutch line that was eliminated because it came from his paternal line.

Mother’s Lutheran Palatinate line, end-of-line ancestors show below, is though Mother’s maternal line.

  • Johann Jacob Borstler – born about 1659 Beindersheim, Bayern, Germany
  • Anna Stauber – born 1659, Schaeurnheim, Germany, father Johannes Stauber
  • Johann Peter Renner – born 1679, Mutterstadt, Bayern, Germany
  • Anna Catherina Schuster – born about 1679 probably in Mutterstadt, Germany
  • Maria Magdalena Schunck – born 1688 probably Mutterstadt, Germany, father Johann George Schunck
  • Johann Martin Weber – born about 1700 Mutterstadt, Germany
  • Rudolph Sager and wife Elizabetha – born about 1669 Ruchheim, Bayern, Germany
  • Rosina Barbara Lemmert – born 1669 Mutterstadt, Bayern, Germany
  • Anna Blancart – born 1642 Mutterstadt, possibly French
  • Johann George Hoertel and wife, Anna Catharina – born about 1642, Mutterstadt, Bayern, Germany
  • Matthaus Matthess – born 1695/1715 Rottenback, Bayern, Germany, wife unknown
  • Anna Gerlin – born 1697, Windischerlaibac, Bayern, Germany
  • Johannes Buntzman – born 1695/1720 Fulgendorf, Bayern, Germany
  • Barbara Mehlheimer – mitochondrial line J1c2 – born 1823 Goppsmannbuhl, Bayern, Germany, mother Elizabetha, unmarried

Note that the mitochondrial line is indeed one of the lines that contributes to the X chromsome inheritance path, but only one of many.

So Marja, it looks like we have to be related through one of my British Isles ancestors, listed in the first part of this article, or from one of Mother’s two German groups.  Personally, I’m betting on the German groups, but you never know.  DNA is full of surprises.

The good news is that my mother’s information is also at GedMatch, along with mine and Marja’s, so by process of elimination, we can at least figure out whether to focus on the pink or the blue side of my chart.

Today, downloading your raw results to GedMatch, combined with Blaine’s X charts above, is really the only good way of working with X chromosome matches.

I’m planning to package this article as a pdf file and send it to my X chromosome matches.  You can substitute your information for mine and do the same thing.  Hopefully, your matches will then understand the X chromsome, its unique inheritance properties, and will provide their X end-of-line ancestors for you as well.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research